Variant report

Variant	rs17429185
Chromosome Location	chr8:68436385-68436386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:68431522..68433668-chr8:68435634..68437252,2	K562	blood:
2	chr8:68436155..68438331-chr8:68440056..68442151,2	MCF-7	breast:
3	chr8:68436129..68437691-chr8:68438991..68441114,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1032815	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10957388	0.85[EUR][1000 genomes]
rs11776371	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11779485	0.92[CEU][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap]
rs11779486	0.91[CEU][hapmap]
rs11781706	0.85[EUR][1000 genomes]
rs13251265	0.85[EUR][1000 genomes]
rs13263838	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13271535	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276447	0.86[EUR][1000 genomes]
rs13278805	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1393898	0.87[EUR][1000 genomes]
rs1393899	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs1393900	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs1393901	0.92[CEU][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs1393902	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1393903	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1503363	0.92[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs1503364	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1503365	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1503366	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1503368	0.85[EUR][1000 genomes]
rs1503369	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs16933333	0.96[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1827524	0.92[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs1875714	0.92[CEU][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs1994221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34397090	0.85[EUR][1000 genomes]
rs34709633	0.85[EUR][1000 genomes]
rs34860297	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35007850	0.85[EUR][1000 genomes]
rs35392939	0.85[EUR][1000 genomes]
rs35523866	0.85[EUR][1000 genomes]
rs4737834	0.92[CEU][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap]
rs4737835	0.96[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs4737838	0.92[CEU][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs60625302	0.85[EUR][1000 genomes]
rs6472309	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6472312	0.92[CEU][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs66468629	0.87[EUR][1000 genomes]
rs67614695	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6994135	0.82[EUR][1000 genomes]
rs6996113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7008297	0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7010517	0.83[EUR][1000 genomes]
rs7014478	0.81[EUR][1000 genomes]
rs7815069	0.85[EUR][1000 genomes]
rs7820882	0.96[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs7821010	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7821161	0.92[CEU][hapmap]
rs7821969	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7822207	0.92[CEU][hapmap]
rs7827961	0.96[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs905529	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17429185	CYP7B1	cis	cerebellum	SCAN

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68435200-68437400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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